Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

Barth, Peter G.; Ryan, Monique M.; Webster, Richard I.; Aronica, Eleonora; Kan, Alex; Ramkema, Marja; Jardine, Philip; Poll-The, Bwee Tien

doi:10.1016/j.nmd.2007.08.001

« Previous Next »Neuromuscular Disorders
Volume 18, Issue 1 , Pages 52-58, January 2008

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

Peter G. Barth
- Department of Paediatric Neurology, Room # G8-211, Emma Children’s Hospital/Academic Medical Centre, University of Amsterdam, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands
- Department of Neuropathology, Academic Medical Center, University of Amsterdam, The Netherlands
- Corresponding author. Address: Department of Paediatric Neurology, Room # G8-211, Emma Children’s Hospital/Academic Medical Centre, University of Amsterdam, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands. Tel.: +31 20 5667508.
Monique M. Ryan
- Royal Children’s Hospital, Melbourne, Australia
- Murdoch Children’s Research Institute, Melbourne, Australia
Richard I. Webster
- Children’s Hospital at Westmead, Westmead, Australia
- Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Eleonora Aronica
- Department of Neuropathology, Academic Medical Center, University of Amsterdam, The Netherlands
Alex Kan
- Children’s Hospital at Westmead, Westmead, Australia
Marja Ramkema
- Department of Neuropathology, Academic Medical Center, University of Amsterdam, The Netherlands
Philip Jardine
- Bristol Children’s Hospital, Bristol, United Kingdom
Bwee Tien Poll-The
- Department of Paediatric Neurology, Room # G8-211, Emma Children’s Hospital/Academic Medical Centre, University of Amsterdam, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands

Received 23 April 2007; received in revised form 26 July 2007; accepted 1 August 2007.

Abstract

Pontocerebellar hypoplasia type 2, an autosomal recessive neurodegeneration with prenatal onset, is characterised by progressive microcephaly and chorea/dystonia and has not previously been associated with muscular involvement. The gene associated with PCH-2 is unknown. An episode of rhabdomyolysis is reported in two non-related children with PCH-2, fatal in one, precipitated by intercurrent disease. Muscle biopsies in two other PCH-2 patients, and in one rhabdomyolysis patient whose biopsy antedated this complication showed areas of myofibrillar disruption or necrosis. Postmortem muscle sampled in another case without neuromuscular symptoms revealed focal necrosis, regenerating small fibres and upregulation of HLA-ABC. Random serum creatine kinase values in six other PCH-2 patients without clinical signs of neuromuscular involvement were increased in four. Collected data provide preliminary evidence of a subclinical myopathy associated with PCH-2.

Keywords: Pontocerebellar hypoplasia type 2, Olivopontocerebellar hypoplasia, Rhabdomyolysis